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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852936G>A
CA273357
PAH
c.721C>T (p.Arg241Cys)
c.706C>T (p.Arg236Cys)
n.480C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
12
g.102852936G>T
CA386295836
PAH
c.721C>A (p.Arg241Ser)
c.706C>A (p.Arg236Ser)
n.480C>A
ClinVar
dbSNP
Number of alleles fetched
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